Watson P, Vasen H F, Mecklin J P, Järvinen H, Lynch H T
Department of Preventive Medicine, Creighton University School of Medicine, Omaha, Nebraska 68178.
Am J Med. 1994 Jun;96(6):516-20. doi: 10.1016/0002-9343(94)90091-4.
Hereditary nonpolyposis colorectal cancer (HNPCC) is characterized by increased risk for cancer, especially colorectal cancer. It has been recommended that colon cancer control programs for family members be expanded to include endometrial cancer, the commonest extracolonic cancer observed in HNPCC families. We estimated the age-specific and cumulative endometrial cancer risk for women at high risk for HNPCC.
Family history data from three large HNPCC registries were combined for this study. High risk family members were identified without regard to extracolonic cancer. Life table methods were used to calculate estimates of risk.
One thousand eighteen women from 86 families were included in the study. Cumulative incidence was 20% by age 70, compared to 3% in the general population. Risk was highest in women most likely to carry the HNPCC gene (P < 0.001). In this group, during the highest risk years (age 40 to 60), average annual risk exceeded 1%. There was no significant difference among the registries, despite different ascertainment practices regarding endometrial cancer.
Interventions to reduce endometrial cancer morbidity and mortality are justified by the risk levels observed. Prophylactic total hysterectomy and bilateral salpingo-oophorectomy should be recommended to women in HNPCC families who have a syndrome cancer or offspring with a syndrome cancer. Endometrial cancer screening should be available to women at high risk. Studies of screening protocols are needed.
遗传性非息肉病性结直肠癌（HNPCC）的特征是患癌风险增加，尤其是结直肠癌。有人建议，针对家庭成员的结肠癌控制项目应扩大到包括子宫内膜癌，这是在HNPCC家族中观察到的最常见的结肠外癌症。我们估计了HNPCC高危女性的年龄特异性和累积子宫内膜癌风险。
本研究合并了来自三个大型HNPCC登记处的家族史数据。确定高危家庭成员时不考虑结肠外癌症。使用生命表方法计算风险估计值。
研究纳入了来自86个家庭的1018名女性。到70岁时累积发病率为20%，而一般人群为3%。在最可能携带HNPCC基因的女性中风险最高（P<0.001）。在这组人群中，在风险最高的年龄段（40至60岁），平均年风险超过1%。尽管各登记处在子宫内膜癌的确诊方法上有所不同，但各登记处之间没有显著差异。
根据观察到的风险水平，采取干预措施降低子宫内膜癌的发病率和死亡率是合理的。对于患有综合征癌症或有患综合征癌症后代的HNPCC家族女性，应建议进行预防性全子宫切除术和双侧输卵管卵巢切除术。应为高危女性提供子宫内膜癌筛查。需要对筛查方案进行研究。
